Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs7542665
rs7542665
L1TD1
9 0.790 0.080 1 62207365 missense variant T/C snv 0.63 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs12979278
rs12979278
MAMSTR
9 0.790 0.080 19 48715345 synonymous variant C/T snv 0.46 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs3181245
rs3181245
TDP2
10 0.790 0.080 6 24651092 intron variant C/G snv 0.42 0.46 0.700 1.000 1 2015 2015
dbSNP: rs174533
rs174533
MYRF ; TMEM258
18 0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs2293581
rs2293581
GREM1 ; LOC100131315
10 0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2293582
rs2293582
GREM1 ; LOC100131315
9 0.790 0.080 15 32718211 non coding transcript exon variant G/A snv 0.23 0.20 0.700 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs4836891
rs4836891
OR1J2
9 0.790 0.080 9 122511295 missense variant G/A snv 9.8E-02 6.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs16845107
rs16845107
CFAP44 ; CFAP44-AS1
9 0.790 0.080 3 113409144 missense variant C/A snv 7.2E-02 7.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs11692435
rs11692435
ACTR1B
10 0.790 0.080 2 97658891 missense variant G/A snv 7.0E-02 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs11727676
rs11727676
HHIP
14 0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485
BOC
10 0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs147978363
rs147978363
EEF2K
1 1.000 0.080 16 22257356 missense variant C/T snv 6.7E-04 5.6E-04 0.700 0
dbSNP: rs139787163
rs139787163
EPHA2
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs555460132
rs555460132
CAMK2B
1 1.000 0.080 7 44228798 missense variant G/A snv 1.9E-04 2.0E-04 0.700 0
dbSNP: rs138398778
rs138398778
ATM
1 1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05 0.700 0
dbSNP: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.700 0